基因名:
GAD2
产品别名:
GAD65; GAD2; glutamate decarboxylase 2; glutamate decarboxylase 2; glutamate decarboxylase 2; 65 kDa glutamic acid decarboxylase; GAD-65; Glutamate decarboxylase-2 (pancreas); glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa); 谷氨酸脱羧酶-65; 谷氨酸脱羧酶2(GAD2); 谷氨酸脱羧酶65+谷氨酸脱羧酶67;
背景信息:
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]